Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDSN gene for Hypotrichosis type 2

PreTest Information

Clinical History of Patient who is going for CDSN Gene Hypotrichosis type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDSN Gene Hypotrichosis type 2 NGS Genetic DNA Test gene CDSN

Detail Description

Understanding CDSN Gene Hypotrichosis type 2 NGS Genetic DNA Test

CDSN Gene Hypotrichosis type 2 is a rare genetic disorder that affects hair growth. It is caused by a mutation in the CDSN gene, which is responsible for the production of a protein called corneodesmosin. This protein is essential for the development and maintenance of hair follicles.

Individuals with CDSN Gene Hypotrichosis type 2 experience hair loss from birth or shortly after. The hair loss is typically patchy and affects the scalp, eyebrows, eyelashes, and other areas of the body. The hair that does grow is often thin, brittle, and easily breakable. In some cases, affected individuals may also have abnormal nails and teeth.

Symptoms of CDSN Gene Hypotrichosis type 2

The symptoms of CDSN Gene Hypotrichosis type 2 include:

• Patchy hair loss
• Thin, brittle hair
• Abnormal nails and teeth

Diagnosis of CDSN Gene Hypotrichosis type 2

CDSN Gene Hypotrichosis type 2 is diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and sensitive method for detecting mutations in the CDSN gene. This test can identify the specific mutation responsible for the disorder and confirm the diagnosis.

Cost of CDSN Gene Hypotrichosis type 2 NGS Genetic DNA Test

The cost of CDSN Gene Hypotrichosis type 2 NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

CDSN Gene Hypotrichosis type 2 is a rare genetic disorder that affects hair growth. It is caused by a mutation in the CDSN gene, and individuals with this disorder experience patchy hair loss, thin, brittle hair, and abnormal nails and teeth. NGS genetic DNA testing is an accurate and reliable method for diagnosing CDSN Gene Hypotrichosis type 2, and the cost of the test in India is approximately INR 20,000.

If you suspect that you or a loved one may have CDSN Gene Hypotrichosis type 2, it is important to consult a genetic counselor and undergo genetic testing to confirm the diagnosis. With a proper diagnosis, affected individuals can receive appropriate care and treatment to manage the disorder and improve their quality of life.

For more information on genetic testing and counseling, contact DNA Labs India today.

The CDSN gene encodes a protein called corneodesmosin, which is found in the hair follicles and plays a role in maintaining the structure of the skin and hair.

Mutations in the CDSN gene can lead to Hypotrichosis Type 2, resulting in hair loss or thinning. The condition is typically inherited in an autosomal recessive manner, meaning that an individual needs to inherit two copies of the mutated gene (one from each parent) to manifest the disorder.

NGS (Next-Generation Sequencing) genetic DNA tests are used to analyze the DNA sequence of genes like CDSN to identify any mutations or variants that may be associated with Hypotrichosis Type 2.

If you or someone you know is considering genetic testing for Hypotrichosis Type 2 related to the CDSN gene, I recommend consulting with a dermatologist, a medical geneticist, or a genetic counselor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment or management options. Medical knowledge can evolve, so it's important to rely on expert guidance for the latest information.